This is a scary moment for us all
We asked for a diagnosis because we knew something was going wrong and maybe we also knew about things going wrong for one of our parents.
Of course what we really want to hear is that our current problems are entirely fixable and nothing to do with a genetically inherited condition beyond any help from the doc.
The horrid moment
Then we get our diagnosis. It goes something like this.
“I’m afraid you have tested positive for ataxia (your variant goes here). This is genetic and you had a 50% chance of inheriting it.” (Guess what your inheritance was 100%.)
“Because it’s genetic we haven’t yet found a way of interfering with it or cutting it out. Frankly as it’s a fairly minor occurring condition and not life threatening, not much has been spent, or is likely to be spent on dealing with it.”
“What I can tell you is it is not life threatening, but can be life limiting. As it’s genetic the only prognosis we are prepared to offer is IT WILL ONLY GET WORSE!”
Faced with this bleak outlook how do we respond? I spent some time feeling pretty sorry for myself. Lamenting all those plans I had for my retirement, which would have to be shelved. Wondering how much of a nuisance I would become to others and generally feeling that my so far charmed life had been stolen from me. Earlier this year I went quite silent as speaking was just too much effort. My wife complained!
How was it for you?
I like to call this the 'wibbly wobbly gene'. As it's genetic and you have it too, perhaps we are related? Welcome brothers, sisters, cousins, nephews, nieces, uncles, aunts, let's fix this together.
Do you want some good news?
Have a look at ataxiafightback.wordpress.com this is a website I'm producing to help myself and share my findings with you all. It's not finished yet but has some stuff to get your teeth into already.